Berg, Jonathan

Dr

  • United Kingdom

  • 1281 Citations
  • 14 h-Index
20082020

Research output per year

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Projects

Research Output

Exome Sequencing in Patients With Antiepileptic Drug Exposure And Complex Phenotypes

Deciphering Developmental Disorders (DDD) Study, Jackson, A., Ward, H., Bromley, R., Deshpande, C., Vasudevan, P. C., Scurr, I., Dean, J., Shannon, N., Berg, J., Holder, S., Baralle, D. & Clayton-Smith, J., 19 Mar 2020, In : Archives of Disease in Childhood. 105, p. 384-389 6 p.

Research output: Contribution to journalArticle

Open Access
File
  • 121 Downloads (Pure)

    Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant

    Deciphering Developmental Disorders (DDD) Study, Michael Yates, T., Ng, O. H., Offiah, A. C., Willoughby, J., Berg, J. N. & Johnson, D. S., Jan 2019, In : American Journal of Medical Genetics, Part A. 179, 1, p. 43-49 7 p.

    Research output: Contribution to journalArticle

    Open Access
    File
  • 48 Downloads (Pure)

    De novo and biallelic DEAF1 variants cause a phenotypic spectrum

    Nabais Sá, M. J., Jensik, P. J., McGee, S. R., Parker, M. J., Lahiri, N., McNeil, E. P., Kroes, H. Y., Hagerman, R. J., Harrison, R. E., Montgomery, T., Splitt, M., Palmer, E. E., Sachdev, R. K., Mefford, H. C., Scott, A. A., Martinez-Agosto, J. A., Lorenz, R., Orenstein, N., Berg, J. N., Amiel, J. & 18 others, Heron, D., Keren, B., Cobben, J-M., Menke, L. A., Marco, E. J., Graham, J. M., Pierson, T. M., Karimiani, E. G., Maroofian, R., Manzini, M. C., Cauley, E. S., Colombo, R., Odent, S., Dubourg, C., Phornphutkul, C., de Brouwer, A. P. M., de Vries, B. B. A. & Vulto-vanSilfhout, A. T., Sep 2019, In : Genetics in Medicine. 21, 9, p. 2059-2069 11 p.

    Research output: Contribution to journalArticle

  • 3 Citations (Scopus)

    Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

    Deciphering Developmental Disorders (DDD) Study, Cogné, B., Ehresmann, S., Beauregard-Lacroix, E., Rousseau, J., Besnard, T., Garcia, T., Petrovski, S., Avni, S., McWalter, K., Blackburn, P. R., Sanders, S. J., Uguen, K., Harris, J., Cohen, J. S., Blyth, M., Lehman, A., Berg, J., Li, M. H., Kini, U. & 33 others, Joss, S., von der Lippe, C., Gordon, C. T., Humberson, J. B., Robak, L., Scott, D. A., Sutton, V. R., Skraban, C. M., Johnston, J. J., Poduri, A., Nordenskjöld, M., Shashi, V., Gerkes, E. H., Bongers, E. M. H. F., Gilissen, C., Zarate, Y. A., Kvarnung, M., Lally, K. P., Kulch, P. A., Daniels, B., Hernandez-Garcia, A., Stong, N., McGaughran, J., Retterer, K., Tveten, K., Sullivan, J., Geisheker, M. R., Stray-Pedersen, A., Tarpinian, J. M., Klee, E. W., Sapp, J. C., Küry, S. & Campeau, P. M., 7 Mar 2019, In : American Journal of Human Genetics. 104, 3, p. 530-541 12 p.

    Research output: Contribution to journalArticle

    Open Access
  • 2 Citations (Scopus)

    P6505 Urinary desmosine, an elastin-specific degradation product is associated with maximum aortic root size and aortic z-scores in patients with bicuspid aortic valve

    Iskandar, Z., Huang, J. T. J., Mordi, I., Miller, L. D., Chin, C., Goudie, D., Mcwilliam, C., Berg, J., Neagoie, A., Lang, C. C. & Choy, A. M., 21 Oct 2019, p. ehz746.1095.

    Research output: Contribution to conferenceAbstract

  • Activities

    • 1 Participation in workshop, seminar, course

    11th International Workshop on Breast Imaging

    Jonathan Berg (Participant)

    9 Jul 2012

    Activity: Participating in or organising an event typesParticipation in workshop, seminar, course

    Thesis

    Assessing risk of familial breast cancer: effectiveness of current UK guidelines

    Author: Littlejohn, L., 2017

    Supervisor: Berg, J. (Supervisor)

    Student thesis: Master's ThesisMaster of Science

    File

    Breast Cancer Risk - Environmental and Genetic Effects on Cancer Development, Progression and Survival

    Author: Mallin, A., 2015

    Supervisor: Berg, J. (Supervisor)

    Student thesis: Master's ThesisMaster of Science

    File

    Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome

    Author: Ibrahim, A., 2016

    Supervisor: Berg, J. (Supervisor)

    Student thesis: Master's ThesisMaster of Science

    Parents' experiences of genetic diagnosis in their child: an exploratory study

    Author: Bryson, L., 2014

    Supervisor: Berg, J. (Supervisor) & Anderson, A. (Supervisor)

    Student thesis: Master's ThesisMaster of Science

    File

    Preclinical evaluation of a vaccine against IL-17 mediated inflammatory diseases including psoriasis

    Author: West, J. D., 2017

    Supervisor: Foerster, J. (Supervisor) & Berg, J. (Supervisor)

    Student thesis: Master's ThesisMaster of Science

    File